multiple epiphyseal dysplasia with myopia and deafness (DOID:0111348)
Alliance: disease page
Synonyms: EDMMD; multiple epiphyseal dysplasia, Beighton type; multiple epiphyseal dysplasia-myopia-deafness syndrome
Alt IDs: OMIM:132450, MESH:C565046, ORDO:166011, UMLS_CUI:C1851536
Definition: A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.